{ "uniprot_canonical_ac": "A0A0G2JW47-1", "uniprot_ac": "A0A0G2JW47", "uniprot_id": "A0A0G2JW47_RAT", "mass": { "chemical_mass": 97807.0, "monoisotopic_mass": 97807.0 }, "refseq": {}, "gene_names": [ { "name": "Pms2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A0A0G2JW47", "id": "A0A0G2JW47" } ], "protein_names": [ { "name": "PMS1 homolog 2, mismatch repair system component", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A0A0G2JW47" } ], "function": [], "disease": [ { "disease_id": "DOID:0070275", "recommended_name": { "id": "DOID:0070275", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070275", "name": "hereditary nonpolyposis colorectal cancer type 4", "description": "A Lynch syndrome that has_material_basis_in heterozygous mutation in the PMS2 gene on chromosome 7p22." }, "synonyms": [ { "id": "DOID:0070275", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070275", "name": "HNPCC4", "description": "" }, { "id": "MONDO:0013699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013699", "name": "Lynch syndrome 4", "description": "Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the PMS2 gene." }, { "id": "MONDO:0013699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013699", "name": "PMS2 hereditary nonpolyposis colon cancer", "description": "" }, { "id": "MONDO:0013699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013699", "name": "colorectal cancer, hereditary nonpolyposis, type 4", "description": "" }, { "id": "MONDO:0013699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013699", "name": "hereditary nonpolyposis colon cancer caused by mutation in PMS2", "description": "" }, { "id": "MONDO:0013699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013699", "name": "HNPCC4", "description": "" }, { "id": "MIM:614337", "resource": "MIM", "url": "https://www.omim.org/entry/614337", "name": "Lynch syndrome 4", "description": "Lynch syndrome 4" } ], "evidence": [ { "id": "0070275", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0070275" } ] }, { "disease_id": "DOID:0112182", "recommended_name": { "id": "DOID:0112182", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112182", "name": "mismatch repair cancer syndrome", "description": "A syndrome characterized by predisposition for development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers that has_material_basis_in homozygous or compound heterozygous mutation in the mismatch repair genes MLH1, MSH2, MSH6, or PMS2 on chromosomes 3p22.2, 2p21-p16, 2p16.3, and 7p22.1, respectively." }, "synonyms": [ { "id": "DOID:0112182", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112182", "name": "BTP1 syndrome", "description": "" }, { "id": "DOID:0112182", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112182", "name": "BTPS1", "description": "" }, { "id": "DOID:0112182", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112182", "name": "CMMRDS", "description": "" }, { "id": "DOID:0112182", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112182", "name": "MMR deficiency", "description": "" }, { "id": "DOID:0112182", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112182", "name": "Turcot syndrome", "description": "" }, { "id": "DOID:0112182", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112182", "name": "CMMR-D syndrome", "description": "" }, { "id": "DOID:0112182", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112182", "name": "brain tumor-polyposis syndrome 1", "description": "" }, { "id": "DOID:0112182", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112182", "name": "childhood cancer syndrome", "description": "" }, { "id": "DOID:0112182", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112182", "name": "constitutional mismatch repair deficiency syndrome", "description": "" }, { "id": "MONDO:0010159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010159", "name": "mismatch repair cancer syndrome 1", "description": "A rare childhood cancer predisposition syndrome caused by biallelic inheritance of mutations in MLH1, MSH2, MSH6, or PMS2 genes. It is characterized by the development of childhood cancers, usually hematological malignancies and/or brain tumors, and colorectal cancers with multiple intestinal polyps. The majority of patients show signs of neurofibromatosis type 1." }, { "id": "MONDO:0010159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010159", "name": "BTP1 syndrome", "description": "" }, { "id": "MONDO:0010159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010159", "name": "CMMR-D", "description": "" }, { "id": "MONDO:0010159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010159", "name": "CMMR-D syndrome", "description": "" }, { "id": "MONDO:0010159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010159", "name": "MMRCS1", "description": "" }, { "id": "MONDO:0010159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010159", "name": "brain tumor-polyposis syndrome 1", "description": "" }, { "id": "MONDO:0010159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010159", "name": "constitutional MIS-match repair deficiency syndrome", "description": "" }, { "id": "MONDO:0010159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010159", "name": "constitutional mismatch repair deficiency syndrome", "description": "" }, { "id": "MONDO:0010159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010159", "name": "mismatch repair cancer syndrome 1", "description": "" }, { "id": "MONDO:0010159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010159", "name": "CNS tumors with familial polyposis of the colon", "description": "" }, { "id": "MONDO:0010159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010159", "name": "CNS tumours with familial polyposis of the colon", "description": "" }, { "id": "MONDO:0010159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010159", "name": "MMR deficiency", "description": "" }, { "id": "MONDO:0010159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010159", "name": "MMRCS", "description": "" }, { "id": "MONDO:0010159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010159", "name": "Turcot syndrome", "description": "" }, { "id": "MONDO:0010159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010159", "name": "brain tumor-polyposis syndrome", "description": "" }, { "id": "MONDO:0010159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010159", "name": "childhood cancer syndrome", "description": "" }, { "id": "MONDO:0010159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010159", "name": "glioma-polyposis syndrome", "description": "" }, { "id": "MONDO:0010159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010159", "name": "malignant tumors of the central nervous system associated with familial polyposis of the colon", "description": "" }, { "id": "MONDO:0010159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010159", "name": "malignant tumours of the central nervous system associated with familial polyposis of the colon", "description": "" }, { "id": "MONDO:0010159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010159", "name": "mismatch repair cancer syndrome", "description": "" }, { "id": "MONDO:0010159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010159", "name": "mismatch repair deficiency", "description": "" }, { "id": "MIM:276300", "resource": "MIM", "url": "https://www.omim.org/entry/276300", "name": "Mismatch repair cancer syndrome 1", "description": "Mismatch repair cancer syndrome 1" } ], "evidence": [ { "id": "0112182", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0112182" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ], "evidence": [ { "id": "10283", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "evidence": [ { "id": "11054", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal 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cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "evidence": [ { "id": "1612", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, somatic", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, epithelial", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "primary ovarian cancer", "description": "" }, { "id": "MIM:167000", "resource": "MIM", "url": "https://www.omim.org/entry/167000", "name": "Ovarian cancer", "description": "Ovarian cancer" } ], "evidence": [ { "id": "2394", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ] }, { "disease_id": "DOID:3883", "recommended_name": { "id": "DOID:3883", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3883", "name": "Lynch syndrome", "description": "A syndrome that is characterized by an increased risk for colon cancer and cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract, brain, and skin and has_material_basis_in mutation of mismatch repair genes that increases the risk of many types of cancers." }, "synonyms": [ { "id": "DOID:3883", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3883", "name": "COCA 1", "description": "" }, { "id": "DOID:3883", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3883", "name": "HNPCC - hereditary nonpolyposis colon cancer", "description": "" }, { "id": "DOID:3883", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3883", "name": "Hereditary Defective Mismatch Repair syndrome", "description": "" }, { "id": "DOID:3883", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3883", "name": "hereditary nonpolyposis colorectal cancer", "description": "" }, { "id": "DOID:3883", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3883", "name": "hereditary nonpolyposis colorectal neoplasm", "description": "" }, { "id": "DOID:3883", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3883", "name": "Hereditary non-polyposis colon cancer", "description": "" }, { "id": "DOID:3883", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3883", "name": "Hereditary non-polyposis colon cancer syndrome", "description": "" }, { "id": "DOID:3883", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3883", "name": "Hereditary non-polyposis colorectal cancer", "description": "" }, { "id": "DOID:3883", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3883", "name": "Hereditary nonpolyposis colon cancer", "description": "" }, { "id": "DOID:3883", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3883", "name": "Hereditary nonpolyposis colon cancer syndrome", "description": "" }, { "id": "DOID:3883", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3883", "name": "Hereditary nonpolyposis colorectal cancer syndrome", "description": "" }, { "id": "DOID:3883", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3883", "name": "Hereditary non-polyposis colorectal cancer syndrome", "description": "" }, { "id": "MONDO:0007356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007356", "name": "Lynch syndrome 1", "description": "Any Lynch syndrome in which the cause of the disease is a mutation in the MSH2 gene." }, { "id": "MONDO:0007356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007356", "name": "HNPCC1", "description": "" }, { "id": "MONDO:0007356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007356", "name": "Hereditary non-polyposis colon cancer type 1", "description": "" }, { "id": "MONDO:0007356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007356", "name": "Lynch 1 syndrome", "description": "" }, { "id": "MONDO:0007356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007356", "name": "Lynch syndrome 1", "description": "" }, { "id": "MONDO:0007356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007356", "name": "Lynch syndrome type 1", "description": "" }, { "id": "MONDO:0007356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007356", "name": "familial non-polyposis 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"colorectal cancer, hereditary nonpolyposis, type 1", "description": "" }, { "id": "MIM:120435", "resource": "MIM", "url": "https://www.omim.org/entry/120435", "name": "Lynch syndrome 1", "description": "Lynch syndrome 1" } ], "evidence": [ { "id": "3883", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3883" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JW47", "url": "https://www.uniprot.org/uniprot/A0A0G2JW47" } ], "common_name": "Rat" } ], "gene": [ { "name": "Pms2", "url": "https://www.uniprot.org/uniprot/A0A0G2JW47", "locus": { "chromosome": "12", "start_pos": 10676764, "end_pos": 10701066, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSRNOG00000001040", "url": "https://www.ensembl.org/id/ENSRNOG00000001040" } ] } } ], "crossref": [ { "id": "ENSRNOG00000001040", "url": "https://bgee.org/?page=gene&gene_id=ENSRNOG00000001040", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd03484", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd03484", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd16926", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd16926", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "IPR002099", "url": "https://www.ebi.ac.uk/interpro/entry/IPR002099", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013507", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013507", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR014721", "url": "https://www.ebi.ac.uk/interpro/entry/IPR014721", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR014762", "url": "https://www.ebi.ac.uk/interpro/entry/IPR014762", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR014790", "url": "https://www.ebi.ac.uk/interpro/entry/IPR014790", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR020568", "url": "https://www.ebi.ac.uk/interpro/entry/IPR020568", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036890", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036890", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR037198", "url": "https://www.ebi.ac.uk/interpro/entry/IPR037198", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR038973", "url": "https://www.ebi.ac.uk/interpro/entry/IPR038973", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR042120", "url": "https://www.ebi.ac.uk/interpro/entry/IPR042120", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR042121", "url": "https://www.ebi.ac.uk/interpro/entry/IPR042121", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "rno:288479", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+rno:288479", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "HIPRPSK", "url": "https://omabrowser.org/oma/group/HIPRPSK/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "4698638at2759", "url": "http://www.orthodb.org/?query=4698638at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR10073", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10073", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR10073:SF52", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10073:SF52", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF01119", "url": "http://pfam.xfam.org/family/PF01119", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF08676", "url": "http://pfam.xfam.org/family/PF08676", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF13589", "url": "http://pfam.xfam.org/family/PF13589", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "1305483", "url": "http://rgd.mcw.edu/tools/genes/genes_view.cgi?id=1305483", "database": "RGD", "categories": [ "Organism-specific" ] }, { "id": "A0A0G2JW47", "url": "https://www.uniprot.org/uniprot/A0A0G2JW47", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0G2JW47-1", "url": "https://www.uniprot.org/uniprot/A0A0G2JW47-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5ZND0", "url": "https://www.uniprot.org/uniprot/A0A8I5ZND0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5ZND0-1", "url": "https://www.uniprot.org/uniprot/A0A8I5ZND0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D4A360", "url": "https://www.uniprot.org/uniprot/D4A360", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D4A360-1", "url": "https://www.uniprot.org/uniprot/D4A360-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MEPTEGASTECAKAIKPIDGKSVHQICSGQVVLSLSTAVKELIENSVDAGATSIDLRLKDYGVDLIEVSDNGCGVEEENFEGLALKHHTSKIREFADLTQVETFGFRGEALSSLCALSDVTISTCHVSASIGTRLVLDHNGKIIQKTPCPRPKGTTVSVQNLFYTLPVRHKEFQRNIKKEYAKMVQVLQAYCIISAGIRVSCTNQLGQGKRQPVVCTSGSSGMKENIGSVFGQKQLQSLVPFVQLPPSDSVCEEYCLSACGTPQSPFRISGFISQCTHGAGRSSTDRQFFFINQRPCDPAKVSRLVNEVYHMYNRHQYPFVVLNVSVDSECVDINVTPDKRQILLQEEKLLLAVLKTSLMGMFDSDANKLSVNQQPLLNVEGNLVKLHTAEVGEQENSPSLRITAEEKRVASVSRLREAYSLHRTTETKSWGPETPELKQSFPSQKRGVSSSCPSDIISYRGLCGSQDKLVSPTDSPGDCMDREKGEKDSGLSSTSAGSEEGFSTPEVASSFSSDCNVSSPEDRPSQENTNCGEQFLEVDDHLSGTGHHLKPEDNGYKCRASLPPTRLSPSNAKRFRTEDRPSNVGVPQNTSAAEVDVAVKINKKIVLLDFSLSSLAKQMKQLQHLKQQSKSEHNYRKFRAKICPGENQAAEDELRREIRKSMFAEMEILGQFNLGFIVTKLKEDLFLVDQHAADEKYNFEMLQQHTVLQAQRLITWVHPSFRARSAPLQMKQLVPAAVCRHAYIPQTLNLTAVNEAVLIENLEIFRKNGFDFIIDEDAPVTERAKLISLPTSKNWTFGPQDIDELIFMLSDSPGVMCRPSRVRQMFASRACRKSVMIGTALSASEMKKLISHMGEMDHPWNCPHGRPTMRHIANLDVISQN", "length": 882, "header": "tr|A0A0G2JW47-1|A0A0G2JW47_RAT Isoform 1 of PMS1 homolog 2, mismatch repair system component OS=Rattus norvegicus OX=10116 GN=Pms2 PE=3 SV=1 CANONICAL=A0A0G2JW47-1" }, "isoforms": [ { "isoform_ac": "A0A0G2JW47-1", "url": "", "sequence": { "sequence": "MEPTEGASTECAKAIKPIDGKSVHQICSGQVVLSLSTAVKELIENSVDAGATSIDLRLKDYGVDLIEVSDNGCGVEEENFEGLALKHHTSKIREFADLTQVETFGFRGEALSSLCALSDVTISTCHVSASIGTRLVLDHNGKIIQKTPCPRPKGTTVSVQNLFYTLPVRHKEFQRNIKKEYAKMVQVLQAYCIISAGIRVSCTNQLGQGKRQPVVCTSGSSGMKENIGSVFGQKQLQSLVPFVQLPPSDSVCEEYCLSACGTPQSPFRISGFISQCTHGAGRSSTDRQFFFINQRPCDPAKVSRLVNEVYHMYNRHQYPFVVLNVSVDSECVDINVTPDKRQILLQEEKLLLAVLKTSLMGMFDSDANKLSVNQQPLLNVEGNLVKLHTAEVGEQENSPSLRITAEEKRVASVSRLREAYSLHRTTETKSWGPETPELKQSFPSQKRGVSSSCPSDIISYRGLCGSQDKLVSPTDSPGDCMDREKGEKDSGLSSTSAGSEEGFSTPEVASSFSSDCNVSSPEDRPSQENTNCGEQFLEVDDHLSGTGHHLKPEDNGYKCRASLPPTRLSPSNAKRFRTEDRPSNVGVPQNTSAAEVDVAVKINKKIVLLDFSLSSLAKQMKQLQHLKQQSKSEHNYRKFRAKICPGENQAAEDELRREIRKSMFAEMEILGQFNLGFIVTKLKEDLFLVDQHAADEKYNFEMLQQHTVLQAQRLITWVHPSFRARSAPLQMKQLVPAAVCRHAYIPQTLNLTAVNEAVLIENLEIFRKNGFDFIIDEDAPVTERAKLISLPTSKNWTFGPQDIDELIFMLSDSPGVMCRPSRVRQMFASRACRKSVMIGTALSASEMKKLISHMGEMDHPWNCPHGRPTMRHIANLDVISQN", "length": 882, "header": "tr|A0A0G2JW47-1|A0A0G2JW47_RAT Isoform 1 of PMS1 homolog 2, mismatch repair system component OS=Rattus norvegicus OX=10116 GN=Pms2 PE=3 SV=1 CANONICAL=A0A0G2JW47-1" }, "locus": { "chromosome": "12", "start_pos": 10700976, "end_pos": 10677096, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000078603.3", "url": "https://www.ensembl.org/id/ENSRNOT00000078603.3" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000069740.2", "url": "https://www.ensembl.org/id/ENSRNOP00000069740.2" } ] } }, { "isoform_ac": "A0A8I5ZND0-1", "url": "", "sequence": { "sequence": "MEPTEGASTECAKAIKPIDGKSVHQICSGQVVLSLSTAVKELIENSVDAGATSIDLRLKDYGVDLIEVSDNGCGVEEENFEGLALKHHTSKIREFADLTQVETFGFRGEALSSLCALSDVTISTCHVSASIGTRLVLDHNGKIIQKTPCPRPKGTTVSVQNLFYTLPVRHKEFQRNIKKEYAKMVQVLQAYCIISAGIRVSCTNQLGQGKRQPVVCTSGSSGMKENIGSVFGQKQLQSLVPFVQLPPSDSVCEEYCLSACGTPQSPFRKSMFAEMEILGQFNLGFIVTKLKEDLFLVDQHAADEKYNFEMLQQHTVLQAQRLITPQTLNLTAVNEAVLIENLEIFRKNGFDFIIDEDAPVTERAKLISLPTSKNWTFGPQDIDELIFMLSDSPGVMCRPSRVRQMFASRACRKSVMIGTALSASEMKKLISHMGEMDHPWNCPHGRPTMRHIANLDVISQN", "length": 461, "header": "tr|A0A8I5ZND0-1|A0A0G2JW47_RAT Computationally mapped isoform of PMS1 homolog 2, mismatch repair system component OS=Rattus norvegicus OX=10116 GN=Pms2 PE=3 SV=1 CANONICAL=A0A0G2JW47-1" }, "locus": { "chromosome": "12", "start_pos": 10700976, "end_pos": 10677096, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000094513.1", "url": "https://www.ensembl.org/id/ENSRNOT00000094513.1" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000079389.1", "url": "https://www.ensembl.org/id/ENSRNOP00000079389.1" } ] } }, { "isoform_ac": "D4A360-1", "url": "", "sequence": { "sequence": "MEPTEGASTECAKAIKPIDGKSVHQICSGQVVLSLSTAVKELIENSVDAGATSIDLRLKDYGVDLIEVSDNGCGVEEENFEGLALKHHTSKIREFADLTQVETFGFRGEALSSLCALSDVTISTCHVSASIGTRLVLDHNGKIIQKTPCPRPKGTTVSVQNLFYTLPVRHKEFQRNIKKEYAKMVQVLQAYCIISAGIRVSCTNQLGQGKRQPVVCTSGSSGMKENIGSVFGQKQLQSLVPFVQLPPSDSVCEEYCLSACGTPQSPFRISGFISQCTHGAGRSSTDRQFFFINQRPCDPAKVSRLVNEVYHMYNRHQYPFVVLNVSVDSECVDINVTPDKRQILLQEEKLLLAVLKTSLMGMFDSDANKLSVNQQPLLNVEGNLVKLHTAEVGEQENSPSLRITAEEKRVASVSRLREAYSLHRTTETKSWGPETPELKQSFPSQKRGVSSSCPSDIISYRGLCGSQDKLVSPTDSPGDCMDREKGEKDSGLSSTSAGSEEGFSTPEVASSFSSDCNVSSPEDRPSQENTNCGEQFLEVDDHLSGTGHHLKPEDNGYKCRASLPPTRLSPSNAKRFRTEDRPSNVGVPQNTSAAEVDVAVKINKKIVLLDFSLSSLAKQMKQLQHLKQQSKSEHNYRKFRAKICPGENQAAEDELRREIRKSMFAEMEILGQFNLGFIVTKLKEDLFLVDQHAADEKYNFEMLQQHTVLQAQRLITWVHPSFRARSAPLQMKQLVPAAVCRHAYMWACIDTCTTHVHTFHIMIITAPLIESLLHGELLRECIHLIQVITPGSSCCHCCSQ", "length": 800, "header": "tr|D4A360-1|A0A0G2JW47_RAT Computationally mapped isoform of PMS1 homolog 2, mismatch repair system component OS=Rattus norvegicus OX=10116 GN=Pms2 PE=3 SV=2 CANONICAL=A0A0G2JW47-1" }, "locus": { "chromosome": "12", "start_pos": 10700976, "end_pos": 10682010, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000067021.3", "url": "https://www.ensembl.org/id/ENSRNOT00000067021.3" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000061927.2", "url": "https://www.ensembl.org/id/ENSRNOP00000061927.2" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [], "pathway": [ { "id": "rno:288479", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+rno:288479", "resource": "KEGG Pathway" } ], "orthologs": [], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 7, "go_terms": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JW47", "url": "https://www.uniprot.org/uniprot/A0A0G2JW47" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JW47", "url": "https://www.uniprot.org/uniprot/A0A0G2JW47" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JW47", "url": "https://www.uniprot.org/uniprot/A0A0G2JW47" } ], "pmid": "" }, { "name": "single base insertion or deletion binding", "id": "GO:0032138", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032138", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JW47", "url": "https://www.uniprot.org/uniprot/A0A0G2JW47" } ], "pmid": "" }, { "name": "ATP-dependent DNA damage sensor activity", "id": "GO:0140664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140664", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JW47", "url": "https://www.uniprot.org/uniprot/A0A0G2JW47" } ], "pmid": "" }, { "name": "single-stranded DNA binding", "id": "GO:0003697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003697", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JW47", "url": "https://www.uniprot.org/uniprot/A0A0G2JW47" } ], "pmid": "" }, { "name": "MutSalpha complex binding", "id": "GO:0032407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032407", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JW47", "url": "https://www.uniprot.org/uniprot/A0A0G2JW47" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 4, "go_terms": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JW47", "url": "https://www.uniprot.org/uniprot/A0A0G2JW47" } ], "pmid": "" }, { "name": "MutLalpha complex", "id": "GO:0032389", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032389", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JW47", "url": "https://www.uniprot.org/uniprot/A0A0G2JW47" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JW47", "url": "https://www.uniprot.org/uniprot/A0A0G2JW47" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JW47", "url": "https://www.uniprot.org/uniprot/A0A0G2JW47" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 8, "go_terms": [ { "name": "DNA repair", "id": "GO:0006281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006281", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JW47", "url": "https://www.uniprot.org/uniprot/A0A0G2JW47" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JW47", "url": "https://www.uniprot.org/uniprot/A0A0G2JW47" } ], "pmid": "" }, { "name": "mismatch repair", "id": "GO:0006298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006298", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JW47", "url": "https://www.uniprot.org/uniprot/A0A0G2JW47" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JW47", "url": "https://www.uniprot.org/uniprot/A0A0G2JW47" } ], "pmid": "" }, { "name": "somatic hypermutation of immunoglobulin genes", "id": "GO:0016446", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016446", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JW47", "url": "https://www.uniprot.org/uniprot/A0A0G2JW47" } ], "pmid": "" }, { "name": "positive regulation of isotype switching to IgG isotypes", "id": "GO:0048304", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048304", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JW47", "url": 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